Lv7
3970 积分 2025-05-15 加入
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
4天前
已完结
Genotype–Phenotype Correlation of ETF Dehydrogenase Gene‐Related Multiple Acyl‐ CoA Dehydrogenation Deficiency in Chinese Patients
29天前
已完结
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness
1个月前
已完结
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
1个月前
已完结
Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder
2个月前
已完结
Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling
2个月前
已关闭
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
2个月前
已完结
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation
3个月前
已完结
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families
3个月前
已完结
First trimester megacystis caused by a homozygous variant in MYL9
3个月前
已完结
皖公网安备34019202002308
